ILNEB
MCID: INT224
MIFTS: 31

Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital (ILNEB)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

MalaCards integrated aliases for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

Name: Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 57 72 29 13 6
Ilneb 57 72
Junctional Epidermolysis Bullosa with Interstitial Lung Disease and Nephrotic Syndrome 58
Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa 36
Lung Disease, Interstitial, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 39
Interstitial Lung Disease-Nephrotic Syndrome-Epidermolysis Bullosa Syndrome 58
Jeb with Interstitial Lung Disease and Nephrotic Syndrome 58
Ilneb Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
four unrelated patients reported (last curated august 2015)
patients die in infancy due to infectious complications


HPO:

31
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare respiratory diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

OMIM® : 57 Mutations in the integrin alpha-3 gene are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. Patients exhibit a multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease (summary by Has et al., 2012). (614748) (Updated 05-Apr-2021)

MalaCards based summary : Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital, also known as ilneb, is related to nephrotic syndrome and epidermolysis bullosa. An important gene associated with Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital is ITGA3 (Integrin Subunit Alpha 3). Affiliated tissues include lung, kidney and skin, and related phenotypes are recurrent respiratory infections and nephrotic syndrome

KEGG : 36 Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. Mutations in ITGA3 are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin.

UniProtKB/Swiss-Prot : 72 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital: A multiorgan disorder characterized by congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease.

Related Diseases for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Diseases related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome 10.0
2 epidermolysis bullosa 10.0
3 interstitial lung disease 10.0
4 lung disease 10.0
5 nail disorder, nonsyndromic congenital, 9 9.9
6 proteinuria, chronic benign 9.9
7 autosomal recessive disease 9.9
8 agammaglobulinemia 9.9
9 familial nephrotic syndrome 9.9
10 pulmonary fibrosis 9.9

Graphical network of the top 20 diseases related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:



Diseases related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital

Symptoms & Phenotypes for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Human phenotypes related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 very rare (1%) HP:0002205
2 nephrotic syndrome 31 very rare (1%) HP:0000100
3 abnormal blistering of the skin 31 very rare (1%) HP:0008066
4 nail dystrophy 31 very rare (1%) HP:0008404
5 respiratory distress 31 very rare (1%) HP:0002098
6 focal segmental glomerulosclerosis 31 very rare (1%) HP:0000097
7 abnormal pulmonary interstitial morphology 31 very rare (1%) HP:0006530
8 hypertelorism 31 HP:0000316
9 macrotia 31 HP:0000400
10 microcephaly 31 HP:0000252
11 proteinuria 31 HP:0000093
12 renal insufficiency 31 HP:0000083
13 prominent forehead 31 HP:0011220
14 neonatal respiratory distress 31 HP:0002643
15 narrow mouth 31 HP:0000160
16 sparse scalp hair 31 HP:0002209
17 fine hair 31 HP:0002213
18 erythema 31 HP:0010783
19 narrow chest 31 HP:0000774
20 gynecomastia 31 HP:0000771
21 round face 31 HP:0000311
22 hypoalbuminemia 31 HP:0003073
23 prominent nose 31 HP:0000448
24 sparse eyelashes 31 HP:0000653
25 onycholysis 31 HP:0001806
26 fragile skin 31 HP:0001030
27 renal tubular atrophy 31 HP:0000092
28 decreased glomerular filtration rate 31 HP:0012213
29 respiratory acidosis 31 HP:0005972
30 hypotonia 31 HP:0001252
31 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
sparse eyelashes
sparse eyebrows
fine eyebrows
antimongoloid slant

Head And Neck Head:
microcephaly

Head And Neck Face:
prominent forehead
round face
retrognathism

Chest External Features:
narrow chest

Laboratory Abnormalities:
hypoalbuminemia
respiratory acidosis
proteinuria (seen in all patients)
decreased glomerular filtration rate (seen in all patients)

Genitourinary Kidneys:
focal segmental glomerulosclerosis
renal failure
tubular atrophy
diffuse interstitial fibrosis
nephrotic syndrome, congenital (seen in all patients)
more
Skin Nails Hair Nails:
dystrophic nails
distal onycholysis following minor trauma

Head And Neck Nose:
prominent nose with long saddle

Skeletal Feet:
deep furrows of soles

Skin Nails Hair Skin Electron Microscopy:
basement membrane abnormalities
thin lamina densa
discontinuities between hemidesmosomes

Neurologic Central Nervous System:
mild muscular hypotonia
delayed neurologic development
normal psychosocial and cognitive development

Respiratory Lung:
recurrent respiratory infections
interstitial lung disease (seen in all patients)
respiratory distress, neonatal (seen in all patients)

Skeletal Skull:
microcephaly

Skin Nails Hair Hair:
sparse scalp hair
fine hair
sparse eyelashes
sparse eyebrows

Chest Breasts:
gynecomastia

Skin Nails Hair Skin:
fragile skin
blisters and erosions after mechanical manipulation
residual erythema after healing

Head And Neck Mouth:
small mouth

Head And Neck Ears:
large ears

Skeletal Hands:
clinodactyly, discrete

Skin Nails Hair Skin Histology:
flat epidermis without rete ridges
subepidermal blisters
focal disruption of dermal-epidermal junction, with cleavage within the basement membrane

Muscle Soft Tissue:
mild muscular hypotonia

Voice:
shrill cry

Clinical features from OMIM®:

614748 (Updated 05-Apr-2021)

Drugs & Therapeutics for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Search Clinical Trials , NIH Clinical Center for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital

Genetic Tests for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Genetic tests related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

# Genetic test Affiliating Genes
1 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 29 ITGA3

Anatomical Context for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

MalaCards organs/tissues related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

40
Lung, Kidney, Skin

Publications for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Articles related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

# Title Authors PMID Year
1
Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome. 6 57
25810266 2015
2
Integrin α3 mutations with kidney, lung, and skin disease. 6 57
22512483 2012
3
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
4
Successful kidney transplantation in a patient with neonatal-onset ILNEB. 61
33470490 2021
5
Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes. 61
30466509 2018
6
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. 61
27717396 2016

Variations for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

ClinVar genetic disease variations for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGA3 ITGA3, 1-BP DEL, NT1173 Deletion Pathogenic 35570 GRCh37:
GRCh38:
2 ITGA3 NM_002204.4(ITGA3):c.1538-1G>A SNV Pathogenic 35571 rs1567701091 GRCh37: 17:48152962-48152962
GRCh38: 17:50075598-50075598
3 ITGA3 NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) SNV Pathogenic 35572 rs140781106 GRCh37: 17:48154006-48154006
GRCh38: 17:50076642-50076642
4 ITGA3 NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) SNV Pathogenic 208455 rs797044989 GRCh37: 17:48151816-48151816
GRCh38: 17:50074452-50074452
5 ITGA3 NM_002204.4(ITGA3):c.2070+1G>A SNV Pathogenic 209163 rs797045048 GRCh37: 17:48154486-48154486
GRCh38: 17:50077122-50077122
6 ITGA3 NM_002204.4(ITGA3):c.1621G>C (p.Gly541Arg) SNV Likely pathogenic 995569 GRCh37: 17:48153046-48153046
GRCh38: 17:50075682-50075682
7 ITGA3 NM_002204.4(ITGA3):c.1973C>G (p.Thr658Arg) SNV Likely pathogenic 209162 rs540704248 GRCh37: 17:48154388-48154388
GRCh38: 17:50077024-50077024
8 ITGA3 NM_002204.4(ITGA3):c.*48G>A SNV Uncertain significance 1028890 GRCh37: 17:48166490-48166490
GRCh38: 17:50089126-50089126
9 ITGA3 NM_002204.4(ITGA3):c.1469+10T>C SNV Benign 518262 rs4793639 GRCh37: 17:48151908-48151908
GRCh38: 17:50074544-50074544

UniProtKB/Swiss-Prot genetic disease variations for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

72
# Symbol AA change Variation ID SNP ID
1 ITGA3 p.Arg628Pro VAR_068808 rs140781106
2 ITGA3 p.Gly125Arg VAR_077512
3 ITGA3 p.Arg274Gln VAR_077513 rs745505565

Expression for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Search GEO for disease gene expression data for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital.

Pathways for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

GO Terms for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Sources for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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